L30V (p.Leu30Val) variant of OPA1 (O60313)
L30V (p.Leu30Val) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD 3-193614778-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.27
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available